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Diagnostics Genetics and epigenetics, Technology and innovation

Melting Away the Mystery

Credit: Ötzi Museum Bozen by Andre, Schade / CC BY

In September 1991, two German tourists stumbled across a mummified corpse trapped in the ice of the Ötztal Alps. After extensive archaeological examination, it was discovered the body was around 5,300 years old. Nicknamed Ötzi the Iceman (and known more formally as the Tyrolean Iceman), the remains provided a unique insight into the Neolithic age and the hunter-gatherer lifestyle.

Although some mysteries remain, including the circumstances of his death and why there was an arrowhead lodged in his left shoulder (I sense a clue there), a great deal has been discovered – even down to his last meal (spoiler alert: he liked red deer and dried ibex meat). Ötzi’s genome was last sequenced over 10 years ago, but, as is well known in diagnostic circles, sequencing technology has come on leaps and bounds since 2012. And that’s why Albert Zink, a mummy researcher at Eurac Research in Bolzano, conducted a high-coverage analysis of Ötzi’s genome to reveal more about his genetic history and phenotypic traits (1).

“I’m often asked if, after 33 years of iceman research, shouldn’t everything be known?” said Zink in a Nature news article (2). “That’s not the case. I think there will always be new doors opening for research.” And boy was he right. Zink’s research found that Ötzi didn’t have Steppe-related ancestry as previously hypothesized, but instead had Anatolian-farmer ancestry. Markers were also found for type 2 diabetes and obesity-related metabolic syndrome. But perhaps the most discussed findings are the ones that have led the world to rethink Ötzi’s physical appearance. It is now thought his skin was much darker and, because he carried the allele for male pattern baldness, it is likely he had little hair when he died. “I was surprised,” ZInk said. “But when I thought about it, it explains much better why the mummy looks like it does”.

These welcome insights likely only scratch the surface of a complex life. Perhaps in another 10 years, we might know his entire life story…

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  1. K Wang et al., Cell Genom, 3 (2023). PMID: 37719142
  2. Nature (2023). Available at:
About the Author
Georgia Hulme

Associate Editor for the Pathologist

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